ClinVar Miner

List of variants in gene TPM2 reported as likely benign for childhood-onset nemaline myopathy

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003289.4(TPM2):c.*25A>C rs781513152 0.00012
NM_003289.4(TPM2):c.-10C>A rs372751531 0.00006
NM_003289.4(TPM2):c.558C>T (p.Ala186=) rs746177794 0.00001
NM_003289.4(TPM2):c.564-9C>T rs763429317 0.00001
NM_003289.4(TPM2):c.564-20_564-19dup rs3215700
NM_003289.4(TPM2):c.773-4_773-3dup rs35401252

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